ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)

gnomAD frequency: 0.00092  dbSNP: rs201236317
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000214466 SCV000270223 likely benign not specified 2015-02-19 criteria provided, single submitter clinical testing p.Gln345Lys in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (135/66722) of European chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs201236317), and the glutamine (Gln) residue at position 345 is not evol utionarily conserved across species, with many species having a lysine (Lys) at this position.
Eurofins NTD LLC (GA) RCV000725783 SCV000339347 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000725783 SCV000981400 likely benign not provided 2022-03-23 criteria provided, single submitter clinical testing
Invitae RCV000725783 SCV001216383 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 345 of the ADGRV1 protein (p.Gln345Lys). This variant is present in population databases (rs201236317, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 227388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genetics, Academic Medical Center RCV000725783 SCV001918216 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725783 SCV001973743 likely benign not provided no assertion criteria provided clinical testing

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